# Charcot-Marie-Tooth disease axonal type 2F

> Charcot-Marie-Tooth disease type 2 that has material basis in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)

**Wikidata**: [Q27164470](https://www.wikidata.org/wiki/Q27164470)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-axonal-type-2f


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106211/MONDO_0011687)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000106211/Orphanet_99940)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)